| 疾病名称 |
别名 |
|
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss
|
EDSKSCL2
|
|
Edskmh
|
Ehlers-Danlos Syndrome Kyphoscoliotic Type 2
|
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Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
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Ehlers-Danlos Syndrome With Kyphoscoliosis, Myopathy, And Deafness
|
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Ehlers-Danlos Syndrome With Kyphoscoliosis, Myopathy, And Hearing Loss
|
Fkbp14-Related Eds
|
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Fkbp22-Deficient Eds
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Kyphoscoliotic Eds Due To Fkbp22 Deficiency
|
|
Keds-Fkbp14
|
Ehlers-Danlos Syndrome, With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss
|
|
Ehlers-Danlos Syndrome, Kyphoscoliotic, Type 2
|
|
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| Muscular Dystrophy, Congenital, Lmna-Related |
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Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Due To Lmna Mutation
|
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MDCL
|
L-Cmd
|
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Lmna-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital
|
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Congenital Muscular Dystrophy Lmna-Related
|
Lmna-Related Cmd
|
|
Cmd
|
Mdc
|
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Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
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Dystrophy, Muscular, Congenital
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Hereditary Muscular Dystrophy
|
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Congenital Hereditary Muscular Dystrophy
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Congenital Progressive Muscular Dystrophy
|
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Hereditary Progressive Muscular Dystrophy
|
|
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| Hypermobile Ehlers-Danlos Syndrome |
|
Heds
|
Ehlers-Danlos Syndrome Type 3
|
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Ehlers-Danlos Syndrome Hypermobility Type
|
Hypermobile Eds
|
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Joint Hypermobility
|
Benign Joint Hypermobility Syndrome
|
|
Eds Hypermobility Type
|
Eds Type Iii
|
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Ehlers-Danlos Syndrome Type Iii
|
Joint Hypermobility Syndrome
|
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Eds3
|
Ehlers-Danlos Syndrome, Hypermobility Type
|
|
Eds Iii
|
Eds-Ht
|
|
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| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
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Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
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Pseudohypertrophic Atrophy
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Pseudohypertrophic Muscle Paralysis
|
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Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
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| Hypotonia |
|
|
| Ehlers-Danlos Syndrome |
|
Eds
|
Cutis Hyperelastica
|
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Elastic Skin
|
Ehlers-Danlos Syndromes
|
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Ed Syndrome
|
Ehlers Danlos Syndrome
|
|
Ehlers Danlos Disease
|
Eds - [Ehlers-Danlos Syndrome]
|
|
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| Hypermobility Syndrome |
|
Benign Joint Hypermobility
|
|
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| Bladder Diverticulum |
|
Diverticulum Of Bladder
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Diverticulum - Bladder
|
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Bladder Diverticula
|
Vesical Diverticulum
|
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Bladder Sacculation
|
|
|
| Combined Oxidative Phosphorylation Deficiency 10 |
|
COXPD10
|
Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency
|
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Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis
|
Infantile Hypertrophic Mitochondrial Cardiomyopathy And Lactic Acidosis
|
|
Combined Oxidative Phosphorylation Defect Type 10
|
Cardiomyopathy Infantile Hypertrophic Mitochondrial And Lactic Acidosis
|
|
Combined Oxidative Phosphorylation Deficiency, Type 10
|
|
|
| Caspase 8 Deficiency |
|
Autoimmune Lymphoproliferative Syndrome Type 2b
|
Caspase-8 Deficiency
|
|
Ceds
|
Alps2b
|
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Autoimmune Lymphoproliferative Syndrome, Type Iib
|
Alps With Recurrent Viral Infections
|
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Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections
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Caspase 8 Deficiency Syndrome
|
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Caspase 8 Lymphadenopathy Syndrome
|
Autoimmune Lymphoproliferative Syndrome Type Iib
|
|
Caspase Eight Deficiency State
|
CASP8D
|
|
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| Perinephritis |
|
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| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Ehlers-Danlos Syndrome, Type I
|
EDSCL1
|
|
Ehlers-Danlos Syndrome Classic Type 1
|
Ehlers-Danlos Syndrome Type 1
|
|
Ehlers-Danlos Syndrome, Type I, Formerly
|
Eds1, Formerly
|
|
Ehlers-Danlos Syndrome, Severe Classic Type, Formerly
|
Eds I, Formerly
|
|
Ehlers-Danlos Syndrome, Gravis Type, Formerly
|
Ehlers-Danlos Syndrome, Type 1
|
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Type I Ehlers-Danlos Syndrome
|
Eds1
|
|
Eds I
|
Ehlers-Danlos Syndrome, Gravis Type
|
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Ehlers-Danlos Syndrome, Severe Classic Type
|
Ehlers-Danlos Syndrome 1
|
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Ehlers-Danlos, Classic Syndrome, Type 1
|
Ehlers-Danlos Syndrome Type 2
|
|
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| Postural Orthostatic Tachycardia Syndrome |
|
Irritable Heart
|
Mitral Valve Prolapse Syndrome
|
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Neurocirculatory Asthenia
|
Orthostatic Intolerance Due To Net Deficiency
|
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Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
|
Orhtostatic Intolerance
|
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Postural Tachycardia Syndrome Due To Net Deficiency
|
Soldiers Heart
|
|
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| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
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| Collagen Disease |
|
Collagen Diseases
|
Collagen Disorder
|
|
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| Tricuspid Valve Prolapse |
|
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| Mongolian Spot |
|
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| Bethlem Myopathy 1 |
|
Bethlem Myopathy
|
Myopathy, Benign Congenital, With Contractures
|
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Muscular Dystrophy, Benign Congenital
|
BTHLM1
|
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Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5
|
Lgmdd5
|
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Benign Congenital Muscular Dystrophy
|
Benign Autosomal Dominant Myopathy
|
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Myopathy, Bethlem
|
Myopathy, Bethlem, Type 1
|
|
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| Ullrich Congenital Muscular Dystrophy 1 |
|
Ullrich Congenital Muscular Dystrophy
|
Ullrich Disease
|
|
Ucmd
|
Ullrich Scleroatonic Muscular Dystrophy
|
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Scleroatonic Muscular Dystrophy
|
UCMD1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
|
Lgmdr22
|
|
Muscular Dystrophy, Scleroatonic
|
Late Onset Scleroatonic Familial Myopathy
|
|
Congenital Muscular Dystrophy, Ullrich Type
|
|
|
| Loeys-Dietz Syndrome |
|
Loeys-Dietz Aortic Aneurysm Syndrome
|
Lds
|
|
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies
|
Furlong Syndrome
|
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
Rigid Spine Syndrome
|
RSMD1
|
|
Rss
|
Mdrs1
|
|
Eichsfeld Type Congenital Muscular Dystrophy
|
Desmin-Related Myopathy With Mallory Bodies
|
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Classic Multiminicore Myopathy
|
Sepn1-Related Myopathy
|
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Multicore Myopathy, Severe Classic Form
|
Minicore Myopathy, Severe Classic Form
|
|
Multiminicore Disease, Severe Classic Form
|
Muscular Dystrophy, Rigid Spine, 1
|
|
Classic Mmd
|
Classic Multiminicore Disease
|
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Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity
|
Desmin-Related Myopathy With Mallory Body-Like Inclusions
|
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Early-Onset Desmin-Related Myopathy
|
Myopathy, Sepn1-Related
|
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Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity
|
Muscular Dystrophy, Congenital, Eichsfeld Type
|
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Severe Classic Form Minicore Myopathy
|
Severe Classic Form Multicore Myopathy
|
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Severe Classic Form Multiminicore Disease
|
Desmin-Related Myopathies With Mallory Bodies
|
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Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity
|
Rigid Spine Muscular Dystrophy-1
|
|
Rigid Spine Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Eichsfeld Type
|
|
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity
|
Minicore Myopathy Severe Classic Form
|
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Multicore Myopathy Severe Classic Form
|
Multiminicore Disease Severe Classic Form
|
|
Dystrophy, Muscular, Rigid Spine, Type 1
|
|
|
| Brittle Bone Disorder |
|
Osteogenesis Imperfecta
|
Brittle Bone Disease
|
|
Fragilitas Ossium
|
Osteopsathyrosis
|
|
Lobstein Disease
|
Oi
|
|
Vrolik Disease
|
Lobstein'S Disease
|
|
Lobstein'S Syndrome
|
Vrolik'S Disease
|
|
Porak And Durante Disease
|
Glass Bone Disease
|
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
Osteogenesis Imperfecta, Recessive Perinatal Lethal
|
|
Brittle Bone Syndrome
|
Oi - [Osteogenesis Imperfecta]
|
|
Ossium Fragility
|
Osteitis Fragilitans
|
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Bony Fragility
|
Blue Sclera With Fragility Of Bone And Deafness
|
|
White Blue Sclera - Fragility Of Bone - Deafness
|
|
|
| Autoimmune Lymphoproliferative Syndrome |
|
ALPS
|
Canale-Smith Syndrome
|
|
Autoimmune Lymphoproliferative Syndrome, Type Ia
|
Autoimmune Lymphoproliferative Syndrome, Type Ib
|
|
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant
|
Css
|
|
Autoimmune Lymphoproliferative Syndrome, Type 1b
|
Autoimmune Lymphoproliferative Syndrome, Type 1a
|
|
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
|
Fas Deficiency
|
|
Autoimmune Lymphoproliferative Syndrome 1a
|
ALPS1A
|
|
Autoimmune Lymphoproliferative Syndrome Type Ia
|
Autoimmune Lymphoproliferative Syndrome 1b
|
|
ALPS1B
|
Autoimmune Lymphoproliferative Syndrome Type Ib
|
|
|
